TBXAS1 Antibody – Rabbit

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

TBXAS1: Defects in TBXAS1 are the cause of Ghosal hematodiaphyseal dysplasia (GHDD). GHDD is a rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all. Defects in TBXAS1 are the cause of thromboxane synthetase deficiency (TBXAS1 deficiency). It is characterized by hemorrhagic diathesis. Belongs to the cytochrome P450 family.

Protein type: Lipid Metabolism - arachidonic acid; EC 5.3.99.5; Isomerase; Oxidoreductase; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 7q34-q35

Cellular Component: endoplasmic reticulum membrane; integral to membrane

Molecular Function: oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; iron ion binding; thromboxane-A synthase activity; heme binding; monooxygenase activity

Biological Process: xenobiotic metabolic process; cyclooxygenase pathway; icosanoid metabolic process; positive regulation of vasoconstriction; arachidonic acid metabolic process; cellular chloride ion homeostasis

Disease: Ghosal Hematodiaphyseal Dysplasia; Bleeding Disorder, Platelet-type, 14